A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985292



Internal ID12983078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:117365155..117393155hg38UCSC Ensembl
InnerchrX:116499118..116527118hg19UCSC Ensembl
InnerchrX:116383146..116411146hg18UCSC Ensembl
InnerchrX:116281000..116309000hg17UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg3828001
hg1928001
hg1828001
hg1728001
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752313
Supporting Variants
SamplesSPC_138
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985292
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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